rs1057518604
A SNP in the PKD1 gene on chromosome 16. Its most notable genotype is -;G: Polycystic Kidney Disease likely, but see discussion
- Gene
- PKD1
- Location
- Chr 162,103,688 (GRCh38)
- Highest magnitude
- 5.0Very important
- Tested on
- Not on consumer chips
Genotypes
Plus strand, as in 23andMe and AncestryDNA files.
SNPedia records rs1057518604 on the minus strand: (-;C), (C;C). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Related
Conditions, medicines and genes
Other PKD1 SNPs
- rs1616940A;GPolycystic Kidney Disease (predicted)Very important
- rs2432403A;GPolycystic Kidney Disease (predicted)Very important
- rs148812376A;AAutosomal dominant polycystic kidney disease (predicted)Very important
- rs151257298A;GPolycystic Kidney Disease (predicted)Very important
- rs199476094A;GPolycystic Kidney Disease (predicted)Very important
- rs199476095A;GPolycystic Kidney Disease (predicted)Very important
- rs199476098G;TPolycystic Kidney Disease (predicted)Very important
- rs199476099A;CPolycystic Kidney Disease (predicted)Very important
Notes
From SNPedia
Notes
c.8369delC (p.Pro2790Argfs) It's likely that the variant allele is pathogenic for autosomal dominant polycystic kidney disease, given the way it is listed in ClinVar, however, it's also possible that it's associated with (only) the recessive form; the ClinVar submitter, GeneDX, did not provide additional details. If any expert has evidence indicating which it is associated with (dominant or recessive) please contact us or leave details on the Discussion page for this SNP.
-;G
See discussion on main rs-page about recessive vs dominant inheritance.
Source and license
Adapted from rs1057518604 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.